PMID- 26252101
OWN - NLM
STAT- MEDLINE
DCOM- 20151116
LR  - 20221207
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 32
IP  - 4
DP  - 2015 Aug
TI  - [Diagnosis of a case with Williams-Beuren syndrome by single nucleotide 
      polymorphism array].
PG  - 529-32
LID - 10.3760/cma.j.issn.1003-9406.2015.04.018 [doi]
AB  - OBJECTIVE: To explore the genetic cause for a child with mental retardation, 
      developmental delay and multi-systemic developmental disorders by analyzing the 
      copy number variations (CNVs) and correlating the genotype with the phenotype. 
      METHODS: Routine G-banding was performed to analyze the karyotype of the patient 
      and her parents. In addition, single nucleotide polymorphisms array (SNP-array) 
      was used to determine the CNVs, which was confirmed by fluorescence in situ 
      hybridization (FISH). RESULTS: No karyotypic abnormality was detected upon 
      chromosome analysis. However, SNP-array has identified a de novo hemizygous 
      deletion of 1673 kb on chromosome region 7q11.23, which has been associated with 
      Williams-Beuren syndrome. The microdeletion was confirmed by FISH testing. 
      CONCLUSION: A child with Williams-Beuren syndrome has been diagnosed by SNP-array 
      and FISH. The de novo 7q11.23 microdeletion probably underlies the clinical 
      manifestation of the patient. Compared with routine karyotype analysis, SNP-array 
      is more useful for diagnosing children with multiple congenital anomalies with 
      unclear etiology.
FAU - Jin, Yuxia
AU  - Jin Y
AD  - Prenatal Diagnosis Center, Maternity and Child Health Hospital, Jiaxing, Zhejiang 
      314000, P. R. China. mzy2005@hotmail.com.
FAU - Liu, Xia
AU  - Liu X
FAU - Li, Suping
AU  - Li S
FAU - Ge, Jiamei
AU  - Ge J
FAU - Wu, Xiufang
AU  - Wu X
FAU - Song, Qinhao
AU  - Song Q
FAU - Zhou, Chiyan
AU  - Zhou C
FAU - Miao, Zhengyou
AU  - Miao Z
LA  - chi
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Adult
MH  - Asian People/genetics
MH  - Child, Preschool
MH  - China
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 7/genetics
MH  - DNA Copy Number Variations
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Polymorphism, Single Nucleotide
MH  - Williams Syndrome/diagnosis/*genetics
EDAT- 2015/08/08 06:00
MHDA- 2015/11/17 06:00
CRDT- 2015/08/08 06:00
PHST- 2015/08/08 06:00 [entrez]
PHST- 2015/08/08 06:00 [pubmed]
PHST- 2015/11/17 06:00 [medline]
AID - 940632116 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2015.04.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):529-32. doi: 
      10.3760/cma.j.issn.1003-9406.2015.04.018.